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DNA methylation (DNAme) is a critical component of the epigenetic regulatory machinery and aberrations in DNAme patterns occur in many diseases, such as cancer. Mapping and understanding DNAme profiles offers considerable promise for…

DNA methylation is an epigenetic mechanism that regulates gene expression by adding methyl groups to DNA. Abnormal methylation patterns can disrupt gene expression and have been linked to cancer development. To quantify DNA methylation,…

Image and Video Processing · Electrical Eng. & Systems 2025-04-09 Manahil Raza , Muhammad Dawood , Talha Qaiser , Nasir M. Rajpoot

DNA cytosine methylation is a critical epigenetic mark regulating gene expression and thus playing an important role in development and differentiation across eukaryotes. Existing tools for high-throughput methylation analysis often lack…

Other Quantitative Biology · Quantitative Biology 2025-10-29 Jonas Bucher , Ueli Grossniklaus , Deepak Kumar Tanwar

DNA methylation is a well-studied genetic modification crucial to regulate the functioning of the genome. Its alterations play an important role in tumorigenesis and tumor-suppression. Thus, studying DNA methylation data may help biomarker…

Genomics · Quantitative Biology 2018-04-16 Fabrizio Celli , Fabio Cumbo , Emanuel Weitschek

Background: Recent assays for individual-specific genome-wide DNA methylation profiles have enabled epigenome-wide association studies to identify specific CpG sites associated with a phenotype. Computational prediction of CpG site-specific…

Genomics · Quantitative Biology 2015-11-12 Weiwei Zhang , Tim D Spector , Panos Deloukas , Jordana T Bell , Barbara E Engelhardt

Interrogating the evolution of biological changes at early stages of life requires longitudinal profiling of molecules, such as DNA methylation, which can be challenging with children. We introduce a probabilistic and longitudinal machine…

Genomics · Quantitative Biology 2025-04-24 Arthur Leroy , Ai Ling Teh , Frank Dondelinger , Mauricio A. Alvarez , Dennis Wang

Cell-free DNA (cfDNA) analysis is a powerful, minimally invasive tool for monitoring disease progression, treatment response, and early detection. A major challenge, however, is accurately determining the tissue of origin, especially in…

Genomics · Quantitative Biology 2025-06-03 Keng-Jung Lee , Dharanya Sampath , Konstantinos Mavrommatis

Methylation of CpG dinucleotides is a prevalent epigenetic modification that is required for proper development in vertebrates, and changes in CpG methylation are essential to cellular differentiation. Genome-wide DNA methylation assays…

Genomics · Quantitative Biology 2014-08-28 John A. Capra , Dennis Kostka

High-throughput genetic and epigenetic data are often screened for associations with an observed phenotype. For example, one may wish to test hundreds of thousands of genetic variants, or DNA methylation sites, for an association with…

Methodology · Statistics 2017-10-20 Eric F. Lock , David B. Dunson

During mammalian embryo development, reprogramming of DNA methylation plays important roles in the erasure of parental epigenetic memory and the establishment of na\"{i}ve pluripogent cells. Multiple enzymes that regulate the processes of…

Genomics · Quantitative Biology 2020-04-20 Yusong Ye , Zhuoqin Yang , Jinzhi Lei

Accurate computational identification of DNA methylation is essential for understanding epigenetic regulation. Although deep learning excels in this binary classification task, its "black-box" nature impedes biological insight. We address…

Machine Learning · Computer Science 2026-02-27 Yi He , Yina Cao , Jixiu Zhai , Di Wang , Junxiao Kong , Tianchi Lu

The understanding of mechanisms that control epigenetic changes is an important research area in modern functional biology. Epigenetic modifications such as DNA methylation are in general very stable over many cell divisions. DNA…

Genomics · Quantitative Biology 2019-01-21 Charalampos Kyriakopoulos , Pascal Giehr , Alexander Lück , Jörn Walter , Verena Wolf

DNA Methylation has been the most extensively studied epigenetic mark. Usually a change in the genotype, DNA sequence, leads to a change in the phenotype, observable characteristics of the individual. But DNA methylation, which happens in…

Genomics · Quantitative Biology 2018-07-26 Soham Chatterjee , Archana Iyer , Satya Avva , Abhai Kollara , Malaikannan Sankarasubbu

DNA methylation is a significant driver of cell-type heterogeneity and has been implicated in various regulatory processes ranging from cell differentiation to imprinting. As the methyl group is embedded in the DNA molecule, assessing DNA…

Quantitative Methods · Quantitative Biology 2023-04-13 Aleksa Krsmanovic

Motivation: DNA methylation is an intensely studied epigenetic mark, yet its functional role is incompletely understood. Attempts to quantitatively associate average DNA methylation to gene expression yield poor correlations outside of the…

Genomics · Quantitative Biology 2016-11-17 Chantriolnt-Andreas Kapourani , Guido Sanguinetti

DNA methylation is an epigenetic mechanism whose important role in development has been widely recognized. This epigenetic modification results in heritable changes in gene expression not encoded by the DNA sequence. The underlying…

Genomics · Quantitative Biology 2017-07-11 Alexander Lück , Pascal Giehr , Jörn Walter , Verena Wolf

Identifying differentially methylated cytosine-guanine dinucleotide (CpG) sites between benign and tumour samples can assist in understanding disease. However, differential analysis of bounded DNA methylation data often requires data…

DNA methylation datasets in cancer studies are comprised of measurements on a large number of genomic locations called cytosine-phosphate-guanine (CpG) sites with complex correlation structures. A fundamental goal of these studies is the…

Methodology · Statistics 2023-05-05 Chiyu Gu , Veerabhadran Baladandayuthapani , Subharup Guha

Epigenetic observations are represented by the total number of reads from a given pool of cells and the number of methylated reads, making it reasonable to model this data by a binomial distribution. There are numerous factors that can…

Applications · Statistics 2020-04-29 Aliaksandr Hubin , Geir O Storvik , Paul E Grini , Melinka A Butenko

In this paper we propose network methodology to infer prognostic cancer biomarkers based on the epigenetic pattern DNA methylation. Epigenetic processes such as DNA methylation reflect environmental risk factors, and are increasingly…

Applications · Statistics 2016-08-02 Thomas E. Bartlett , Alexey Zaikin
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